Deletion | NC_000015.10:g.(?_48410970)_(48412763_?)del | FBN1 | Pathogenic | 15 | 48703167 | 48704960 | na | na | criteria provided, single submitter | - |
Deletion | NC_000015.10:g.(?_48596263)_(48644789_?)del | FBN1 | Pathogenic | 15 | 48888460 | 48936986 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_000138.5(FBN1):c.7822G>T (p.Glu2608Ter) | FBN1 | Pathogenic | 15 | 48707962 | 48707962 | C | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000138.5(FBN1):c.7399C>T (p.Gln2467Ter) | FBN1 | Pathogenic | 15 | 48717620 | 48717620 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000138.5(FBN1):c.7398C>G (p.Tyr2466Ter) | FBN1 | Pathogenic | 15 | 48717621 | 48717621 | G | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000138.5(FBN1):c.6883T>C (p.Cys2295Arg) | FBN1 | Pathogenic | 15 | 48720657 | 48720657 | A | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000138.5(FBN1):c.5918-1G>C | FBN1 | Pathogenic | 15 | 48736858 | 48736858 | C | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000138.5(FBN1):c.5788+6T>G | FBN1 | Likely pathogenic | 15 | 48738897 | 48738897 | A | C | criteria provided, single submitter | - |
Deletion | NM_000138.5(FBN1):c.5688_5691del (p.Arg1897fs) | FBN1 | Pathogenic | 15 | 48739000 | 48739003 | CTCTT | C | criteria provided, single submitter | - |
Deletion | NM_000138.5(FBN1):c.5545+1del | FBN1 | Likely pathogenic | 15 | 48744758 | 48744758 | AC | A | criteria provided, single submitter | - |